Variant report

Variant	rs73397512
Chromosome Location	chr7:99770912-99770913
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99770423..99772860-chr7:100025787..100027522,2	MCF-7	breast:
2	chr7:99754799..99757162-chr7:99770359..99773122,3	MCF-7	breast:
3	chr7:99732120..99733625-chr7:99770101..99771753,2	K562	blood:
4	chr7:99764650..99767201-chr7:99768632..99771682,4	MCF-7	breast:
5	chr7:99754722..99756227-chr7:99770103..99772274,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146826	Chromatin interaction
ENSG00000197093	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000146834	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs57263854	1.00[AMR][1000 genomes]
rs57403878	1.00[AMR][1000 genomes]
rs57662248	1.00[AMR][1000 genomes]
rs58604532	1.00[AMR][1000 genomes]
rs59687495	1.00[AMR][1000 genomes]
rs59900957	1.00[AMR][1000 genomes]
rs60112004	1.00[AMR][1000 genomes]
rs60692359	1.00[AMR][1000 genomes]
rs61628190	1.00[AMR][1000 genomes]
rs61648592	1.00[AMR][1000 genomes]
rs61687460	1.00[AMR][1000 genomes]
rs73395957	1.00[AMR][1000 genomes]
rs73401429	1.00[AMR][1000 genomes]
rs73409503	1.00[AMR][1000 genomes]
rs73409509	1.00[AMR][1000 genomes]
rs73409513	1.00[AMR][1000 genomes]
rs73409528	1.00[AMR][1000 genomes]
rs73409529	1.00[AMR][1000 genomes]
rs73409546	1.00[AMR][1000 genomes]
rs73409549	1.00[AMR][1000 genomes]
rs73409550	1.00[AMR][1000 genomes]
rs73409552	1.00[AMR][1000 genomes]
rs73411424	1.00[AMR][1000 genomes]
rs73411425	1.00[AMR][1000 genomes]
rs7796719	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
2	nsv607931	chr7:99664817-99796146	Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1097 gene(s)	inside rSNPs	diseases
3	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
4	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
5	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
6	nsv427794	chr7:99750981-99960900	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv428180	chr7:99750981-99960900	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv888773	chr7:99751594-99772298	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv5867	chr7:99766774-99799755	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99766600-99773800	Weak transcription	Hela-S3	cervix
2	chr7:99766800-99774200	Weak transcription	Fetal Lung	lung
3	chr7:99767000-99773200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:99767000-99773800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:99767200-99773800	Weak transcription	HSMM	muscle
6	chr7:99767200-99773800	Weak transcription	NH-A	brain
7	chr7:99767200-99774000	Weak transcription	HSMMtube	muscle
8	chr7:99767800-99773600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:99768200-99771600	Weak transcription	Dnd41	blood
10	chr7:99768400-99772800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:99769000-99773400	Weak transcription	Primary T cells from cord blood	blood
12	chr7:99769000-99773800	Weak transcription	K562	blood
13	chr7:99769600-99771600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:99769600-99773200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:99769600-99774200	Weak transcription	HMEC	breast
16	chr7:99769600-99774600	Weak transcription	Ovary	ovary
17	chr7:99769600-99774600	Weak transcription	Right Atrium	heart
18	chr7:99769800-99771400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:99769800-99771400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:99769800-99771400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:99769800-99771400	Weak transcription	Thymus	Thymus
22	chr7:99769800-99771600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:99769800-99772800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:99769800-99773800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:99769800-99773800	Weak transcription	HUVEC	blood vessel
26	chr7:99769800-99774000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:99769800-99774200	Weak transcription	Primary B cells from cord blood	blood
28	chr7:99769800-99774200	Weak transcription	Brain Hippocampus Middle	brain
29	chr7:99769800-99774200	Weak transcription	NHDF-Ad	bronchial
30	chr7:99769800-99774600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:99770000-99771000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr7:99770000-99771000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr7:99770000-99771000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:99770000-99771200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:99770000-99771200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:99770000-99771200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:99770000-99771200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr7:99770000-99771200	Weak transcription	Fetal Stomach	stomach
39	chr7:99770000-99771400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr7:99770000-99771400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:99770000-99771400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:99770000-99771400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:99770000-99771400	Weak transcription	Fetal Muscle Leg	muscle
44	chr7:99770000-99771400	Weak transcription	Fetal Thymus	thymus
45	chr7:99770000-99771600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:99770000-99771600	Weak transcription	Brain Germinal Matrix	brain
47	chr7:99770000-99771800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:99770000-99772200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:99770000-99772200	Weak transcription	Fetal Intestine Small	intestine
50	chr7:99770000-99772400	Weak transcription	Fetal Brain Male	brain

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